[Clinical and genetic characteristics of osteopetrosis in children].
Clinical phenotypes of OPT in children are heterogeneous, predominantly involving <i>CLCN7</i> and <i>TCIRG1</i> gene variants, with a correlation between clinical phenotypes and genotypes.
Authors
- Chenglin Zhu (ORCID: https://orcid.org/0000-0003-3486-1936)
- Shan Gao (ORCID: https://orcid.org/0000-0003-4832-5739)
- Ao-Shuang Jiang
- Jian Wang (ORCID: https://orcid.org/0000-0002-5137-0330)
- Jie Wang (ORCID: https://orcid.org/0000-0002-5852-9754)
- Yan Li (ORCID: https://orcid.org/0000-0002-5662-4723)
- Tianping Chen
- Hongjun Liu (ORCID: https://orcid.org/0000-0002-7508-8524)
- Min Wang (ORCID: https://orcid.org/0000-0003-2052-199X)
- Yaping Wang (ORCID: https://orcid.org/0009-0003-7473-9529)
Institutions
- Anhui Provincial Children's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-05-15
- DOI
- https://doi.org/10.7499/j.issn.1008-8830.2411167
- Primary Topic
- Bone Metabolism and Diseases
- Type
- article